The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK
Osma S. Rautila, Karri Kaivola, Harri Rautila, Laura Hokkanen, Jyrki Launes, Timo E. Strandberg, Hannu Laaksovirta, Johanna Palmio, Pentti J. Tienari
The paper uses haplotype sharing trees and HAPTK to show that intermediate-length C9orf72 repeat alleles share haplotypes with the hexanucleotide repeat expansion, suggesting they are potential premutation alleles.
The American Journal of Human Genetics · Jan 18, 2024Peer-reviewedGenetics